Allele Registry

Canonical Allele Identifier: PA2830152253

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000592435

RCV000690561

ClinVar Variation:

497384

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Gly588Ser	CA10072170 NM_058174.3:c.1762G>A